Incidental Mutation 'IGL01348:Nup160'
| ID |
75180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL01348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90530772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 477
(T477A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057481
AA Change: T477A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: T477A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup160
|
28 |
543 |
9.9e-134 |
PFAM |
|
low complexity region
|
695 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1152 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136739
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,467,213 (GRCm39) |
E140G |
probably null |
Het |
| Adgrl3 |
A |
G |
5: 81,874,570 (GRCm39) |
T956A |
probably damaging |
Het |
| Aff4 |
G |
A |
11: 53,293,327 (GRCm39) |
S772N |
probably benign |
Het |
| Ark2n |
A |
G |
18: 77,761,613 (GRCm39) |
I233T |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,390 (GRCm39) |
I492M |
probably benign |
Het |
| Atf4 |
T |
C |
15: 80,140,728 (GRCm39) |
|
probably benign |
Het |
| Atrip |
A |
G |
9: 108,898,363 (GRCm39) |
S219P |
probably damaging |
Het |
| Axl |
G |
A |
7: 25,462,734 (GRCm39) |
R656W |
probably damaging |
Het |
| B3gnt3 |
T |
A |
8: 72,145,648 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Baz2b |
A |
G |
2: 59,764,031 (GRCm39) |
V915A |
possibly damaging |
Het |
| Cacna1s |
T |
C |
1: 136,002,890 (GRCm39) |
V329A |
possibly damaging |
Het |
| Celf3 |
C |
A |
3: 94,395,535 (GRCm39) |
Q388K |
possibly damaging |
Het |
| Ciita |
T |
C |
16: 10,328,591 (GRCm39) |
S292P |
probably damaging |
Het |
| Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
| Clec18a |
G |
A |
8: 111,798,245 (GRCm39) |
A423V |
probably damaging |
Het |
| Clnk |
T |
C |
5: 38,870,550 (GRCm39) |
D336G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,960,596 (GRCm39) |
H3273P |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,805,817 (GRCm39) |
V157E |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,160,679 (GRCm39) |
I87T |
probably damaging |
Het |
| Ell3 |
A |
G |
2: 121,272,277 (GRCm39) |
S66P |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,950,798 (GRCm39) |
F631L |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,784 (GRCm39) |
V1289D |
probably damaging |
Het |
| Gm16372 |
T |
C |
12: 24,543,606 (GRCm39) |
|
probably benign |
Het |
| Gm4553 |
C |
T |
7: 141,718,909 (GRCm39) |
C173Y |
unknown |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,042 (GRCm39) |
H285L |
unknown |
Het |
| Gykl1 |
A |
T |
18: 52,827,808 (GRCm39) |
I339F |
possibly damaging |
Het |
| H60b |
A |
C |
10: 22,162,078 (GRCm39) |
N101T |
possibly damaging |
Het |
| Inpp4a |
C |
T |
1: 37,427,986 (GRCm39) |
T407I |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,861 (GRCm39) |
N331S |
possibly damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,783 (GRCm39) |
C430S |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,995,564 (GRCm39) |
S1G |
probably null |
Het |
| Mybpc2 |
C |
A |
7: 44,165,352 (GRCm39) |
M372I |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,702,629 (GRCm39) |
T1768S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,188,606 (GRCm39) |
K1063E |
probably damaging |
Het |
| Nat8f5 |
A |
T |
6: 85,794,862 (GRCm39) |
F33I |
probably damaging |
Het |
| Nbeal2 |
T |
G |
9: 110,458,214 (GRCm39) |
N2119T |
probably damaging |
Het |
| Nek11 |
C |
T |
9: 105,270,112 (GRCm39) |
G37S |
probably damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,177,974 (GRCm39) |
N479D |
probably damaging |
Het |
| Or10al5 |
A |
T |
17: 38,063,177 (GRCm39) |
H144L |
probably benign |
Het |
| Or5h18 |
T |
A |
16: 58,848,157 (GRCm39) |
T38S |
probably damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,581,066 (GRCm39) |
V259A |
probably benign |
Het |
| Pmm1 |
A |
G |
15: 81,836,219 (GRCm39) |
V131A |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,511,831 (GRCm39) |
D908E |
probably damaging |
Het |
| Psg29 |
A |
C |
7: 16,944,598 (GRCm39) |
R369S |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,547,765 (GRCm39) |
D211V |
probably damaging |
Het |
| Rdh9 |
A |
G |
10: 127,612,661 (GRCm39) |
N103S |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,286,020 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
A |
T |
13: 33,275,398 (GRCm39) |
Q174H |
probably benign |
Het |
| Sgip1 |
G |
T |
4: 102,772,353 (GRCm39) |
|
probably null |
Het |
| Sgpp1 |
A |
T |
12: 75,781,767 (GRCm39) |
Y191N |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,036,051 (GRCm39) |
N641S |
probably damaging |
Het |
| Slc5a4b |
T |
C |
10: 75,906,422 (GRCm39) |
N399S |
probably damaging |
Het |
| Snx16 |
C |
T |
3: 10,484,219 (GRCm39) |
A335T |
probably damaging |
Het |
| Sos2 |
C |
T |
12: 69,664,866 (GRCm39) |
R355H |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,250,821 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,387,902 (GRCm39) |
D344E |
probably benign |
Het |
| Tek |
C |
A |
4: 94,747,895 (GRCm39) |
Q988K |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,979,299 (GRCm39) |
D143G |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,735,511 (GRCm39) |
K713R |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,808,858 (GRCm39) |
E556V |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,855,015 (GRCm39) |
K1891N |
probably damaging |
Het |
| Trpv1 |
G |
A |
11: 73,129,078 (GRCm39) |
|
probably null |
Het |
| Usp37 |
T |
C |
1: 74,500,861 (GRCm39) |
S567G |
probably damaging |
Het |
| Zfp773 |
A |
T |
7: 7,138,314 (GRCm39) |
V107D |
possibly damaging |
Het |
|
| Other mutations in Nup160 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Nup160
|
APN |
2 |
90,523,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00938:Nup160
|
APN |
2 |
90,563,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Nup160
|
APN |
2 |
90,563,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01140:Nup160
|
APN |
2 |
90,530,909 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01361:Nup160
|
APN |
2 |
90,514,356 (GRCm39) |
nonsense |
probably null |
|
|
IGL01595:Nup160
|
APN |
2 |
90,560,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01791:Nup160
|
APN |
2 |
90,534,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Nup160
|
APN |
2 |
90,560,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02147:Nup160
|
APN |
2 |
90,534,285 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02250:Nup160
|
APN |
2 |
90,539,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02507:Nup160
|
APN |
2 |
90,560,079 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03108:Nup160
|
APN |
2 |
90,534,169 (GRCm39) |
missense |
probably benign |
|
|
R0031:Nup160
|
UTSW |
2 |
90,547,931 (GRCm39) |
splice site |
probably null |
|
|
R0365:Nup160
|
UTSW |
2 |
90,539,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0417:Nup160
|
UTSW |
2 |
90,565,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0781:Nup160
|
UTSW |
2 |
90,563,563 (GRCm39) |
splice site |
probably benign |
|
|
R1037:Nup160
|
UTSW |
2 |
90,524,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Nup160
|
UTSW |
2 |
90,563,563 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Nup160
|
UTSW |
2 |
90,520,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Nup160
|
UTSW |
2 |
90,530,887 (GRCm39) |
missense |
probably benign |
|
|
R1468:Nup160
|
UTSW |
2 |
90,530,887 (GRCm39) |
missense |
probably benign |
|
|
R1478:Nup160
|
UTSW |
2 |
90,509,743 (GRCm39) |
start gained |
probably benign |
|
|
R1565:Nup160
|
UTSW |
2 |
90,552,405 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1617:Nup160
|
UTSW |
2 |
90,509,843 (GRCm39) |
missense |
probably benign |
|
|
R1647:Nup160
|
UTSW |
2 |
90,540,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1648:Nup160
|
UTSW |
2 |
90,540,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1702:Nup160
|
UTSW |
2 |
90,514,302 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1719:Nup160
|
UTSW |
2 |
90,530,780 (GRCm39) |
nonsense |
probably null |
|
|
R2448:Nup160
|
UTSW |
2 |
90,552,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3775:Nup160
|
UTSW |
2 |
90,552,420 (GRCm39) |
missense |
probably benign |
|
|
R3776:Nup160
|
UTSW |
2 |
90,552,420 (GRCm39) |
missense |
probably benign |
|
|
R4600:Nup160
|
UTSW |
2 |
90,515,541 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4812:Nup160
|
UTSW |
2 |
90,556,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Nup160
|
UTSW |
2 |
90,530,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5309:Nup160
|
UTSW |
2 |
90,563,176 (GRCm39) |
nonsense |
probably null |
|
|
R5312:Nup160
|
UTSW |
2 |
90,563,176 (GRCm39) |
nonsense |
probably null |
|
|
R5447:Nup160
|
UTSW |
2 |
90,555,959 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5682:Nup160
|
UTSW |
2 |
90,510,155 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5726:Nup160
|
UTSW |
2 |
90,548,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Nup160
|
UTSW |
2 |
90,553,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Nup160
|
UTSW |
2 |
90,510,114 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5851:Nup160
|
UTSW |
2 |
90,537,382 (GRCm39) |
missense |
probably benign |
|
|
R5988:Nup160
|
UTSW |
2 |
90,519,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Nup160
|
UTSW |
2 |
90,520,449 (GRCm39) |
nonsense |
probably null |
|
|
R6164:Nup160
|
UTSW |
2 |
90,548,220 (GRCm39) |
nonsense |
probably null |
|
|
R6356:Nup160
|
UTSW |
2 |
90,542,279 (GRCm39) |
splice site |
probably null |
|
|
R6379:Nup160
|
UTSW |
2 |
90,532,753 (GRCm39) |
nonsense |
probably null |
|
|
R6519:Nup160
|
UTSW |
2 |
90,548,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6755:Nup160
|
UTSW |
2 |
90,530,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6989:Nup160
|
UTSW |
2 |
90,537,364 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7251:Nup160
|
UTSW |
2 |
90,530,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7256:Nup160
|
UTSW |
2 |
90,553,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Nup160
|
UTSW |
2 |
90,534,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7546:Nup160
|
UTSW |
2 |
90,515,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Nup160
|
UTSW |
2 |
90,533,456 (GRCm39) |
missense |
probably benign |
|
|
R7768:Nup160
|
UTSW |
2 |
90,530,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7959:Nup160
|
UTSW |
2 |
90,544,239 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8525:Nup160
|
UTSW |
2 |
90,548,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8726:Nup160
|
UTSW |
2 |
90,563,545 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8745:Nup160
|
UTSW |
2 |
90,530,463 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8989:Nup160
|
UTSW |
2 |
90,548,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Nup160
|
UTSW |
2 |
90,514,429 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9147:Nup160
|
UTSW |
2 |
90,533,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Nup160
|
UTSW |
2 |
90,533,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Nup160
|
UTSW |
2 |
90,552,585 (GRCm39) |
intron |
probably benign |
|
|
R9153:Nup160
|
UTSW |
2 |
90,514,429 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9284:Nup160
|
UTSW |
2 |
90,548,375 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9435:Nup160
|
UTSW |
2 |
90,560,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9537:Nup160
|
UTSW |
2 |
90,560,088 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9695:Nup160
|
UTSW |
2 |
90,538,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation